Publication:
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

Date

Authors

ÖZEN, AHMET OĞUZHAN

Keywords

Female, Humans, Child, Preschool, Mutation, Nervous System Diseases, Epilepsy, Cataract, Metabolism, Inborn Errors, Neutropenia, Microcephaly, 3-Methylglutaconic acid, CLPB, Endopeptidase Clp, Muscle Hypertonia, Severe congenital neutropenia

URI

https://hdl.handle.net/11424/252833

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